用于癌症基因-环境研究的40个候选基因中，单核苷酸多态性（SNP）的等位基因频率：来自日本基于人群的随机样本的数据。
Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples.
作者信息
Yoshimura Kimio, Hanaoka Tomoyuki, Ohnami Shumpei, Ohnami Sumiko, Kohno Takashi, Liu Ying, Yoshida Teruhiko, Sakamoto Hiromi, Tsugane Shoichiro
机构信息
Cancer Information and Epidemiology Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan.
Epidemiology and Biostatistics Division, National Cancer Center Research Institute East, Chiba, Japan.
出版信息
J Hum Genet. 2003;48(12):654-658. doi: 10.1007/s10038-003-0096-1. Epub 2003 Nov 21.
Knowledge of genetic polymorphisms in gene-environment studies may contribute to more accurate identification of avoidable risks and to developing tailor-made preventative measures. The aim of this study was to describe the allele frequencies of single nucleotide polymorphisms (SNPs) of select genes, which may be included in future gene-environment studies on cancer in Japan. SNP typing was performed on middle-aged Japanese men randomly selected from the general population in five areas of Japan. We genotyped and calculated allele frequencies of 153 SNPs located on 40 genes: CYP1A1, CYP1B1, CYP2C9, CYP2C19, CYP2E1, CYP17A1, CYP19A1, AHR, ESR1, ESR2, ERRRG, PGR, EPHX1, EPHX2, HSD17B2, HSD17B3, GSTM2, GSTM3, GSTT2, GSTP1, NAT1, NAT2, COMT, ADH1A, ADH1B, ADH1C, ALDH2, NOS2A, NOS3, IL1A, IL1B, OGG1, NUDT1 [MTH1], DRD2, DRD3, DRD4, SLC6A4, NR3C1 [GCCR], MTHFR, and NQO1. In the present study, the Japanese allele frequencies were verified by using nationwide population samples.
在基因-环境研究中了解基因多态性，可能有助于更准确地识别可避免的风险，并制定量身定制的预防措施。本研究的目的是描述特定基因单核苷酸多态性（SNP）的等位基因频率，这些基因可能会纳入未来日本癌症的基因-环境研究中。对从日本五个地区的普通人群中随机选取的中年日本男性进行SNP分型。我们对位于40个基因上的153个SNP进行基因分型并计算等位基因频率，这些基因包括：CYP1A1、CYP1B1、CYP2C9、CYP2C19、CYP2E1、CYP17A1、CYP19A1、AHR、ESR1、ESR2、ERRRG、PGR、EPHX1、EPHX2、HSD17B2、HSD17B3、GSTM2、GSTM3、GSTT2、GSTP1、NAT1、NAT2、COMT、ADH1A、ADH1B、ADH1C、ALDH2、NOS2A、NOS3、IL1A、IL1B、OGG1、NUDT1 [MTH1]、DRD2、DRD3、DRD4、SLC6A4、NR3C1 [GCCR]、MTHFR和NQO1。在本研究中，通过使用全国范围的人群样本对日本的等位基因频率进行了验证。
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